Thiel-Behnke Corneal Dystrophy in a Young Man in Denmark—A Case Report

Background: This case report presents a case of bilateral Thiel-Behnke corneal dystrophy in Denmark. Thiel-Behnke is an autosomal dominant inherited epithelial-stromal TGFBI dystrophy causing visual impairment. Methods and Results: This case study presents a 24-year-old Lithuanian man, with no previous ocular history, who had experienced slowly progressive visual impairment since his childhood. He was examined at the Department of Ophthalmology at Vejle Hospital and Aarhus University Hospital, where he was diagnosed with bilateral Thiel-Behnke corneal dystrophy. Histology confirmed the diagnosis. A lamellar corneal transplantation was performed in the right eye;however, due to epithelial growth under the corneal graft, it was later decided to redo the operation. Following the operations, the patient experienced a visual improvement in best corrected visual acuity (BCVA) from 0.1 (20/25 Snellen equivalent) to 0.3 (20/40 Snellen equivalent) in his right eye. Conclusions: This case of Thiel-Behnke corneal dystrophy is to our knowledge the first reported case in Denmark.

A NEW APPROACH TO GENE DIAGNOSIS OF DUCHENNE/BECKER MUSCULAR DYSTROPHY──AMPLIFIED FRAGMENT LENGTH POLYMORPHISM

Four (CA)n repeats, located in introns 44, 45, 49 and 50 of the dystrophin gene., were evaluated in Chinese. These loci are highly polymorphic, with polymorphism information contents of 0. 872, 0. 772, 0. 870 and 0. 718, respectively. All four loci can be easily amplified and labelled using two duplex PCR reactions with α-32P-dCTP and can be detected by denaturing polyacrylamide gel electrophoresis. Using these four loci and the two polymorphic (CA)n repeats located at the 5' and 3' ends of the dystrophin gene, we have developed a new PCR-based procedure -Amp-FLP (amplified fragment length polymorphism) linkage analysis for the gene diagnosis of DMD/BMD. This method can detect intragenic recombination rapidly and efficiently and greatly. improves the success rate of carrier detection and prenatal diagnosis in non-deletion DMD/BMD families. All of the loci used in this procedure are intragenic. In addition, the loci in introns 44. 45, 49 and 50 are located in the deletion-prone region of the dystrophin gene, making them valuable and useful in the identification of deletion mutations. Here we report one case of deletion detection using these four loci.

Evaluation of axial length/total corneal refractive power ratio as a potential marker for ocular diagnosis of Marfan’s syndrome in children

AIM:To investigate whether the axial length(AL)/total corneal refractive power(TCRP)ratio is a sensitive and simple factor that can be used for the early diagnosis of Marfan’s syndrome(MFS)in children.METHODS:The relationship between the AL/TCRP ratio and the diagnosis of MFS for 192 eyes in 97 children were evaluate.The biological characteristics,including age,sex,AL,and TCRP,were collected from medical records.Receiver operating characteristic(ROC)curve analysis was performed to investigate whether the AL/TCRP ratio effectively distinguishes MFS from other subjects.The Youden index was used to re-divide the whole population into two groups according to an AL/TCRP ratio of 0.59.RESULTS:Of 96 subjects(mean age 7.46±3.28 y)evaluated,56(110 eyes)had a definite diagnosis of MFS in childhood based on the revised Ghent criteria,41(82 eyes)with diagnosis of congenital ectopia lentis(EL)were included as a control group.AL was negatively correlated with TCRP,with a linear regression coefficient of-0.36(R2=0.08).A significant correlation was found between age and the AL/TCRP ratio(P=0.023).ROC curve analysis showed that the AL/TCRP ratio distinguished MFS from the other patients at a threshold of 0.59.MFS patients were present in 24/58(41.38%)patients with an AL/TCRP ratio of≤0.59 and in 34/39(87.18%)patients with an AL/TCRP ratio of>0.59.CONCLUSION:An AL/TCRP ratio of>0.59 is significantly associated with the risk of MFS.The AL/TCRP ratio should be measured as a promising marker for the prognosis of children MFS.Changes in the AL/TCRP ratio should be monitored over time.

Two－step multiplex polymerase chain reaction for gene diagnosis of progressive pseudohypertrophic muscular dystrophy

in the present study,9 exon-containing DNA segments of dystrophin gene with 9 sets of oligonucleotide primers by two-step multiplex polymerase chain reaction (mPCR) were amplified. Subsequently,gene analysis was performed in 36 cases of Duchenne mascular dystroply (DMD) and 4 cases of Becker muscular dystrophy(BMD). The findings showed that 17 cases of deletion were detected by using the first 5 sets of primers with a relatively high incidence of deletion detection and 2 more cases of deletion were detected by using the remaining 4 sets of primers. The total deletion rate detected by mPCR with 9 cases of primers was 47. 5% of the patients examined,suggesting that about 79. 1% of the patients with gene deletion could be detected. Thus,as a preliminary screening, the two-step mPCR can be used in the gene diagnosis of DMD/BMD. The method is not only simple, convenient and rapid,but also free from radiosotope trouble.

A Preliminary Report of Predisposing Factors and Predominant Microbiological Diagnosis of Corneal Ulcers Seen at the Federal Teaching Hospital Abakaliki, Nigeria

Background: Microbial keratitis often results in poor visual outcome despite treatment. A revision of treatment protocol based on local evidence may be required in order to obtain better treatment outcome. Objectives: To determine the predisposing factors and predominant microbiological diagnosis of corneal ulcers seen at the Federal Teaching Hospital Abakaliki (FETHA), Ebonyi State, Nigeria. Materials and Methods: This is a preliminary report of an on-going longitudinal descriptive study of all consenting corneal ulcer patients managed at the FETHA eye clinic over a 4-month period. Information obtained were socio-demographic data, presenting complaints, duration of symptoms prior to presentation, history of preceding trauma, medications used before presentation, presenting and final visual acuity and microbiological diagnosis. Results: A diagnosis of corneal ulcer was made in 8 out of the 852 outpatients seen over the study period giving a hospital prevalence rate of 0.59%. Five patients (62.50%) were males, five (62.50%) were farmers and 4 patients (50%) were above 60 years of age. The microbial diagnoses were bacterial keratitis 37.5% (Staphylococcus aureus), fungal keratitis 25% (Fusarium spp. and aspergillus) and acanthamoeba (25%). None of the patients ever used contact lenses. There was a history of eye trauma in 50% of the patients. All the eyes presented blind after a period of failed attempts to treat by self or quacks. Mean duration before presentation was two weeks. Treatment improved the visual acuity in 37.5% of patients. Conclusion: Bacteria, fungi and acanthamoeba organisms were the microbiological isolates from the scrapings of corneal ulcer patients seen in the eye clinic of FETHA;with bacterial organisms being the most common. Farming activities, preceding eye trauma, delayed presentation, self-medication and use of traditional eye medications (TEM) were common findings among the patients. A future larger study is recommended to confirm the findings of this study. Eye health education campaigns should be directed at farmers to encourage early presentation to hospitals.

Clinical applications of high-throughput genetic diagnosis in inherited retinal dystrophies: Present challenges and future directions

The advent of next generation sequencing(NGS) tech-niques has greatly simplified the molecular diagnosis and gene identification in very rare and highly heterogeneous Mendelian disorders. Over the last two years, these approaches, especially whole exome sequencing(WES), alone or combined with homozygosity mapping and linkage analysis, have proved to be successful in the identification of more than 25 new causative retinal dystrophy genes. NGS-approaches have also identified a wealth of new mutations in previously reported genes and have provided more comprehensive information concerning the landscape of genotype-phenotype correlations and the genetic complexity/diversity of human control populations. Although whole genome sequencing is far more informative than WES, the functional meaning of the genetic variants identified by the latter can be more easily interpreted, and final diagnosis of inherited retinal dystrophies is extremely successful, reaching 80%, particularly for recessive cases. Even considering the present limitations of WES, the reductions in costs and time, the continual technical improvements, the implementation of refined bioinformatic tools and the unbiased comprehensive genetic information it provides, make WES a very promising diagnostic tool for routine clinical and genetic diagnosis in the future.

Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report

BACKGROUND Ullrich congenital muscular dystrophy(UCMD)is one of the collagen-VI-related myopathies caused by mutations of COL6A1,COL6A2,and COL6A3 genes.Affected individuals are characterized by muscle weakness,proximal joint contracture,distal joint hyperlaxity,and progressive respiratory failure.There is currently no cure for UCMD.Here,we report the clinical manifestations and prenatal diagnosis of compound heterozygous mutations of the COL6A2 gene in a Chinese family with UCMD.CASE SUMMARY A 3-year-old boy,his 4-year-old brother,their parents,and a 20-wk-old fetus in the mother’s womb were included in the study.The brothers had the typical manifestations of the early-severe subtype:A delayed motor milestone(never walking independently),torticollis,scoliosis,proximal joint contracture,distal joint hyperextension,right hip joint dislocation,and calcaneal protuberance.Both brothers were found by whole-exome sequencing and Sanger sequencing to carry two mutations of the COL6A2 gene(c.1353_c.1354insC,p.Arg453Profs-Ter42/c.2105G>A,p.Trp702Ter).The absence of collagen VI staining in the younger brother’s muscle was identified accurately.Genetic counseling and prenatal diagnosis were crucial for the family,as the autosomal recessive genetic disease affected a quarter of the patient’s siblings.The fetus of the mother’s third child underwent prenatal diagnosis and carried the same two mutations of COL6A2,confirmed in the amniotic fluid by multiplex ligation-dependent probe amplification and short tandem repeats.After a painful psychological struggle,the parents finally decided to terminate the pregnancy.CONCLUSION We report a Chinese family suffering from UCMD.By clarifying the COL6A2 mutations in the probands,the parents had the opportunity to opt for voluntary interruption of the third UCMD pregnancy.

Characteristics of corneal dystrophies:a review from clinical,histological and genetic perspectives

Corneal dystrophy is a common type of hereditary corneal diseases. It includes many types, which have varied pathology, histology and clinical manifestations. Recently, the examination techniques of ophthalmology and gene sequencing advance greatly, which do benefit to our understanding of these diseases. However, many aspects remain still unknown. And due to the poor knowledge of these diseases, the results of the treatments are not satisfactory. The purpose of this review was to summarize the clinical, histological and genetic characteristics of different types of corneal dystrophies.

TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy

AIM: To analyze phenotype and genotype of a Chinese pedigree with Avellino corneal dystrophy (ACD). METHODS: Complete ophthalmic EX aminations were performed on all the family members. Exons of TGFBI were amplified by polymerase chain reaction, sequenced, and compared with a reference database. RESULTS: A single heterozygous G>A(R124H) point mutation was identified in exon 4 of TGFBI in three affected members and two unaffected children who were offsprings of the affected members, but not in the other family members. CONCLUSION: Mutation R124H in TGFBI was identified in this pedigree and appeared to be the disease causing mutation. Atypical phenotype and low penetrance was observed in this pedigree..

Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients

AIM： To uncover the mutations profile of transforming growth factor beta-induced （TGFBI） gene in Chinese corneal dystrophy patients and further investigate the characteristics of genotype-phenotype correlations. METHODS： Forty-two subjects （6 unrelated families including 15 patients and 8 unaffected members, and 19 sporadic patients） of Chinese origin were subjected to phenotypic and genotypic characterization. The corneal phenotypes of patients were documented by slit lamp photography. Mutation screening of the coding regions of TGFBI was performed by direct sequencing. RESULTS： We detected four corneal dystrophy types. The most frequent phenotypes were granular corneal dystrophy （GCD） （including 3 families and 8 sporadic patients） and lattice corneal dystrophy （LCD） （including 2 families and 9 sporadic patients）. The next phenotypes were corneal dystrophy of Bowman layer （CDB） （1 family and 1 sporadic patient） and epithelial basement membrane dystrophy （EBMD） （1 sporadic patient）. Six distinct mutations responsible for TGFBI corneal dystrophies were identified in 30 individuals with corneal dystrophies. Those were, p.R124H mutation in 1 family and 2 sporadic patients with GCD, p.R555W mutation in 2 families and 3 sporadic patients with GCD, p.R124C mutation in 2 families and 7 sporadic patients with LCD, p.A620D mutation in 1 sporadic patient with LCD, p.H626R mutation in 1 sporadic patient with LCD, and p.R555Q in 1 family and 1 sporadic patient with CDB. No mutation was detected in the remaining 3 atypical GCD patients and 1 EBMD patient, CONCLUSION： GCD and LCD are the most frequent phenotypes in Chinese population. R555W was the most common mutation for GCD; R124C was the most common mutation for LCD, Our findings extend the mutational spectrum of TFGBI , and this is the extensively delineated TGFBI mutation profile associated with the various corneal dystrophies in the Chinese population.

Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI

·AIM: To investigate the clinical features and genetic defects in four generations of a Chinese family affected with atypical granular corneal dystrophy type I (GCD type I). · METHODS: Family history and clinical data were recorded. Genomic DNA samples were obtained from peripheral blood leukocytes of all participated. Exons of the transforming growth factor-β-induced (TGFBI) gene were directly sequenced after being amplified by polymerase chain reaction (PCR), and multi-point linkage analysis using microsatellite makers flanking the gene was applied to identify the disease-causing mutation. · RESULTS: Clinical features were quite variable in patients, some patients only had opacities in the epithelium, and others revealed multiple bilateral circular, discrete, crumb -like opacities mainly in the epithelium, with several in different depths of corneal stroma, and the performance was different bilaterally, even in the same patient. Directly nucleotide sequencing revealed a heterozygous p.R555W mutation in the coding sequence of the TGFBI gene in all affected individuals of the family, but was not found in all unaffected. The maximum logarithm of odds (LOD) score obtained by multi -point analysis was detected at marker locus D5S393 (LOD = 2.740; α=1.000). ·CONCLUSION: Our case presented with clinical futures and the pathogenic mutations in TGFBI gene, the phenotype of the pedigree was quite different from typical GCD type I, so we suggested that this phenotype was a variant of GCD type I. These findings expand the knowledge about GCD type I, and demonstrate that molecular genetic analysis is important to make an accurate diagnosis of patients with variable corneal dystrophies in clinic.

Arg124Cys mutation of the TGFBI gene in a Chinese pedigree of Reis-Bücklers corneal dystrophy

AIM: To analyze mutations in transforming growth factor beta-induced (TGFBI) gene in a Chinese pedigree with Reis-Bücklers corneal dystrophy (RBCD,also known as GCD3).METHODS: In a five-generation Chinese family,eight members were identified with RBCD and the rest were unaffected.All members of the family underwent complete ophthalmologic examinations.Exons of TGFBI were amplified by polymerase chain reaction,sequenced,and compared with a reference database.RESULTS: A single heterozygous C>T (R124C) point mutation was found in exon 4 of TGFBI in all the affected members of the pedigree,but not in the unaffected members.CONCLUSION: R124C which was a known mutation for lattice corneal dystrophy type I,segregated with the RBCD in this pedigree.This elucidated the correlation between genotype and phenotype in a Chinese family of RBCD.

Comparing corneal outcome between femtosecond laser-assisted cataract surgery and conventional phaco surgery in Fuchs’endothelial dystrophy patients:a randomized pilot study with 6mo follow up

AIM:To compare the corneal outcome in Fuchs’endothelial dystrophy(FED)patients between femtosecond laser-assisted cataract surgery(FLACS)and conventional phaco surgery(CPS).METHODS:This was a randomized controlled study comparing one eye surgery by FLACS and the contralateral eye operated by CPS(stop and chop technique)in FED patients.Central corneal thickness,corneal light backscatter,corneal densitometry,and central corneal endothelial cell count and hexagonality(noncontact endothelial cell microscope),and corrected distance visual acuity(CDVA)were assessed preoperatively and at day 1,40,and 180 postoperatively.RESULTS:Totally 31 patients(16 women)were included.At day 40 postoperatively,the mean endothelial cell loss(ECL)was 23.67%by FLACS and 17.30%by CPS(P=0.53).At day 180 postoperatively,ECL was 25.58%in FLACS and 21.32%in CPS(P=0.69).Densitometry data in all layers and all annuli from anterior layer to posterior layer in annuli 0-2,2-6,6-10 and 10-12,total densitometry with all layers and all annuli was performed.A significant difference was found in 6-10(posterior layer)at day 1 with-1.42 grayscale units(GSU;95%CI:-2.66 to-0.19,P=0.02).In 10-12(anterior layer,central layer and all layers)at day 40 were significant different with 7.7(95%CI:1.89 to 13.50,P=0.009),3.97(95%CI:0.23 to 7.71,P=0.03),4.73 GSU(95%CI:0.71 to 8.75,P=0.02),respectively.In the remaining parameters we found no difference between the two groups(P>0.05).Three CPS eyes suffered from corneal decompensation.CONCLUSION:There is no significant difference in corneal outcome between FLACS and CPS.Endothelial cell density and pentacam corneal outcome may be inadequate as outcome parameters in FED patients.

TGFBI and CHST6 gene analysis in Chinese stromal corneal dystrophies

AIM:To investigate whether mutations in TGFBI gene or CHST6 gene correlated with stromal corneal dystrophies(CD) in 8 Chinese probands.· METHODS:Eight unrelated patients with stromal corneal dystrophies were recruited in this study;all affected members were assessed by completely ophthalmologic examinations.Genomic DNA was extracted from peripheral leukocytes,17 exons of TGFBI gene and the exon of CHST6 gene were amplified by polymerase chain reaction(PCR),sequenced directly and compared with the reference database.· RESULTS:Three heterozygous mutations in TGFBI gene were identified in six patients:c.370C>T(p.Arg124Cys) was found in exon 4 of TGFBI gene in three members,c.371G>A(p.Arg124His) was found in one patient;c.1663C>T(p.Arg555Trp) was found in exon 12 in other two members.In addition,four polymorphisms with the nucleotide changes rs1442,rs1054124,rs4669,and rs35151677 were found in TGFBI gene.Mutations were not identified in the rest of 2 affected individuals in TGFBI gene or CHST6 gene.· CONCLUSION:Within these patients,R124C,R124H and R555W mutations were co-segregated with the disease phenotypes and were specific mutations for lattice corneal dystrophy type I(LCD I),Avellino corneal dystrophy(ACD,GCDⅡ),granular corneal dystrophy type I(GCD I),respectively.Our study highlights the prevalence of codon 124 and codon 555 mutations in the TGFBI gene among the Chinese stromal corneal dystrophies patients.·

Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy

AIM：To report a phenotypic variant pedigree of lattice corneal dystrophy（LCD）associated with two mutations,R124C and A546 D,in the transforming growth factor betainduced gene（TGFBI）.METHODS：A detailed ocular examination was taken for all participants of a LCD family. Peripheral blood leukocytes from each participant were extracted to obtain the DNA. Polymerase chain reaction（PCR）of all seventeen exons of TGFBI gene was performed. The products were sequenced and analyzed. Histological examination was carried out after a penetrating keratoplasty from the right eye of proband. RESULTS：Genetic analysis showed that the proband and all 6 affected individuals harbored both a heterozygous CGC to TGC mutation at codon 124 and a heterozygous GCC to GAC mutation at codon 546 of TGFBI. None of the 100 control subjects and unaffected family members was positive for these two mutations. Ocular examination displayed multiple refractile lattice-like opacities in anterior stroma of the central cornea and small granular deposits in the peripheral cornea. The deposits were stained positively with Congo red indicating be amyloid in nature and situated mainly in the anterior and middle stroma. CONCLUSION：We observed a novel LCD family which carried two pathogenic mutations（R124C and A546D）in the TGFBI gene. The phenotypic features were apparently different from those associated with corresponding single mutations. The result reveals that although the definite mutation is the most important genetic cause of the disease,some different modifier alleles may influence the phenotype.

Phacoemulsification in a rare case of keratoconus with Fuch's endothelial corneal dystrophy

Dear Sir,Iam Dr.Jaya Kaushik from the Department of Ophthalmology of the Post Graduate Institute of Medical Education and Research,Chandigarh,India.I write to present a case report of phacoemulsification in a rare case of cataract associated with keratoconus and Fuch’s endothelial corneal

Genetic and Phenotypic Investigation of a Chinese Pedigree with Lattice Corneal Dystrophy ⅢB Subtype

Purpose:.To investigate phenotypes and disease-causing mutation in the transforming growth factor b-induced gene(TGFBI) in a Southern Chinese pedigree with lattice corneal dystrophy(LCD) IIIB with complicated cataract.Methods:.A Southern Chinese pedigree with lattice corneal dystrophy IIIB with complicated cataract was recruited. Comprehensive ophthalmic investigations were performed before and after cataract surgery of phacoemulsification and intraocular lens implantation in the proband's both eyes..Peripheral blood was collected from the proband,.and genomic DNA was extracted..All exons of the TGFBI gene were sequenced to screen possible mutations.Results:.A bilateral LCD IIIB subtype was observed in the proband..Optical coherence tomography further revealed superreflective changes in the subepithelial and stroma layers of the cornea,.with reduced central corneal thickness..Notably,bilateral cataract was found in the proband..Direct sequencing detected a recurrent heterozygous missense c.1877A>G mutation in exon 14 of the TGFBI gene,.resulting in substitution of histidine with arginine(p.H626R).Conclusion:.The current study was the first report of the TGFBI p.H626R mutation in Southern Chinese,.suggesting that it could be a mutation hotspot across populations..Moreover,.the mutation was associated with LCD IIIB subtype with complicated cataract,.which had not been reported before,pointing to clinical heterogeneity of the mutation.

Deterioration of Avellino corneal dystrophy in a Chinese family after LASIK

AIM:To reveal the importance of TGFBI gene screening for candidates with a family history of corneal disease or granular opacities in corneal stroma before refractive surgery.METHODS:A 37-year-old male(proband)underwent bilateral laser-assisted in situ keratomileusis(LASIK)in 2002,with right vision decreased significantly in 2006.The proband and other 32 members of the family underwent a detailed ophthalmic examination,including vision acuity,intraocular pressure,slit-lamp photograph,fundus examination,optical coherence tomography(OCT)of cornea,and in vivo confocal microscope(IVCM)and peripheral blood was used for genomic DNA extraction.Seventeen TGFBI gene exons were analyzed via polymerase chain reaction amplification and direct sequencing.RESULTS:Slit-lamp,IVCM,and OCT images showed that a large amount of dense and confluent granular opaque were seen at the interfaces of the flap and remnant stromal bed in right and light degree in left eye.Sanger sequencing showed that there was a 371 G>A mutation(CGC>CAC)in exon 4,which indicated that he harbored a heterozygote R124 H mutation,identifying the diagnosis of Avellino corneal dystrophy(ACD).Among the other 32 family members,6 of them harbored the identical mutation to that in the proband.CONCLUSION:ACD will worsen and recur after LASIK.Preoperative gene-screening for TGFBI mutations is important in diagnosing ACD.

A recognition survey of granular corneal dystrophy type 2 genetic detection in China

AIM:To evaluate the feasibility of promoting genetic detection for granular corneal dystrophy type 2(GCD2)by a questionnaire conducted among citizens in five cities in China.METHODS:The data were collected by questionnaire,and analyzed by Chi-square test and one-tailed t test in IBM SPSS statistics.RESULTS:Based on the survey data on the awareness of GCD2 genetic detection in this study and the positive predictive analysis report of the citizens in five cities in China,the vast majority(84.2%)of respondents had never heard of it and did not know that GCD2 patients have been prohibited from performing excimer surgery that can deteriorate GCD2 patients’condition even leading to blindness.Though 3.4%of patients understood GCD2 very much,they have no idea that GCD2 could not be 100%accuracy diagnosed by the conventional inspection methods.CONCLUSION:It is feasible and necessary to use GCD2 genetic detection as an excimer preoperative examination project.In order to promote the development of detection project,a few improvements should be carried out in terms of the promoting efforts,costs,and research progress.

Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree

·AIM:To investigate the histological characteristics and ultrastructure of recurrent Chinese R124 L mutated corneal dystrophy after keratoplasty.·METHODS:The subjects were enrolled from a Chinese family of corneal dystrophy with R124 L heterozygous gene mutation and with a history of consanguineous marriage.Normal corneal samples were used as controls.·RESULTS:In this family,2 patients(3 eyes)underwent penetrating keratoplasty(PKP)and 2 patients(4 eyes)underwent lamellar keratoplasty(LKP).They had recurrence at 33.5±3.0(range 30-36)mo after keratoplasty.Among them,1 patient(1 eye)underwent PKP again and 1 patient(2 eyes)underwent LKP again.In the R124 L mutated recurrent corneal dystrophy,the corneal turbidity was mainly distributed from the upper corneal cortex to the anterior stroma;the corneal epithelium surface was rougher and more uneven;and,the corneal erosions were larger.Hematoxylin-eosin staining showed that the thickness of the corneal epithelium was uneven;the arrangement of the epithelial cells was disordered;and,some corneal epithelial cells were swollen.The results of Congo red staining,Masson’s trichrome staining and Periodic acid-Schiff staining were positive,while that of Alcian blue staining was negative.Under a transmission electron microscope,deposition of high electron density substances between epithelial and basal cells,and,apoptosis of basal cells were observed.Many high electron density depositions were observed in the sub-epithelial and anterior corneal matrix.·CONCLUSION:In the Chinese family of recurrent corneal dystrophy with R124 L gene mutation,the corneal epithelia of the recurrent cases are rougher,and the corneal depositions are extra cellular amyloid fibrin.